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February 1978

Retinal Involvement in Thoracic-Pelvic-Phalangeal Dystrophy

Author Affiliations

From the Departments of Ophthalmology (Dr L. Bard) and Pediatrics (Dr P. Bard), Kaiser-Permanente Medical Center, Sacramento, Calif, the Department of Pediatrics (Dr Hall), University of California, San Francisco, and the Department of Ophthalmology (Drs L. Bard and Owens), University of California, Davis.

Arch Ophthalmol. 1978;96(2):278-281. doi:10.1001/archopht.1978.03910050146008

• A patient with typical thoracic-pelvicphalangeal dystrophy has survived to the age of 11 years with no pulmonary problem except a single episode of pneumonia at the age of 5 years. She has no evidence of renal disease. An associated ocular lesion resembled Leber's congenital amaurosis clinically but was different on electrophysiologic testing.